Hs03346246_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147202762 on build GRCh38
• Cytoband: 1q21.1

Target Gene Details

• Entrez Gene ID: 9557
• Gene Name: chromodomain helicase DNA binding protein 1 like
• Gene Aliases: ALC1, CHDL
• Location: Chr.1:147172804-147295766 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHD1L	XM_017002858.1			XP_016858347.1

Target Gene Details

• Entrez Gene ID: 2330
• Gene Name: flavin containing monooxygenase 5
• Gene Aliases: -
• Location: Chr.1:147183963-147225798 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FMO5	NM_001144829.2			NP_001138301.1
	NM_001144830.2			NP_001138302.1
	NM_001461.3			NP_001452.2
	XM_005272946.4			XP_005273003.1
	XM_005272947.4			XP_005273004.1
	XM_005272948.4			XP_005273005.1
	XM_006711245.3			XP_006711308.1
	XM_011509350.2			XP_011507652.1
	XM_011509351.2			XP_011507653.1
	XM_017000801.1			XP_016856290.1
	XM_017000802.1			XP_016856291.1
	AK222728.1			BAD96448.1
	AK225739.1
	AK314647.1
	BC035687.1			AAH35687.1
	L37080.1			AAA67849.1
	Z47553.1			CAA87633.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	GJA5 PIAS3 NBPF13P LOC101927468 NOTCH2NL RBM8A RNVU1-8 LIX1L RNVU1-3 NBPF11 LOC100132057 ANKRD34A CH17-408M7.1 GPR89B LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 HFE2 PDZK1P1 LOC105371242 LOC284561 HYDIN2 FMO5 GNRHR2 LOC105371226 RNF115 NUDT17 POLR3GL ACP6 RNU1-13P MIR6736 RNVU1-7 NBPF10 MIR5087 PDZK1 RNVU1-1 CD160 LOC100996763 NUDT4P1 NBPF14 LOC728989 ANKRD35 ITGA10 BCL9 PEX11B PPIAL4G LOC101928979 MIR6077 NBPF12 POLR3C PRKAB2 PDE4DIP RNVU1-6 GPR89A NUDT4P2 TXNIP GJA8 LINC00624
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 NBPF10 MIR5087 RNVU1-8 RNVU1-1 LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 PDZK1P1 BCL9 PPIAL4G LOC101928979 LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP RNVU1-6 NUDT4P2 GJA8 ACP6 LINC00624 RNU1-13P
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 NBPF10 MIR5087 RNVU1-8 RNVU1-1 LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 PDZK1P1 BCL9 PPIAL4G LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP NUDT4P2 GJA8 ACP6 LINC00624 RNU1-13P
nsv1077657	Chr.1:147010816 - 147207577 on Build GRCh38	Deletion	RNVU1-8 CHD1L PDIA3P1 PRKAB2 NBPF13P FMO5 LOC728989
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 NBPF10 MIR5087 RNVU1-8 RNVU1-1 LIX1L LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 ANKRD34A CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 HFE2 PDZK1P1 BCL9 PPIAL4G LOC101928979 LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP RNVU1-6 NUDT4P2 POLR3GL TXNIP GJA8 ACP6 LINC00624 RNU1-13P
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 MIR5087 RNVU1-8 RNVU1-1 LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 PDZK1P1 BCL9 PPIAL4G LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP NUDT4P2 GJA8 ACP6 LINC00624 RNU1-13P
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 NBPF10 MIR5087 RNVU1-8 RNVU1-1 LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 PDZK1P1 BCL9 PPIAL4G LOC101928979 LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP RNVU1-6 NUDT4P2 GJA8 ACP6 LINC00624 RNU1-13P
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	GJA5 NBPF13P LOC101927468 NOTCH2NL RNVU1-7 NBPF10 MIR5087 RNVU1-8 RNVU1-1 LOC100996763 RNVU1-3 NUDT4P1 NBPF14 NBPF11 LOC100132057 CH17-408M7.1 GPR89B LOC728989 LOC100505824 LOC100996517 LINC01138 CHD1L PDIA3P1 PDZK1P1 BCL9 NBPF9 PPIAL4G LOC101928979 LOC105371242 LOC284561 HYDIN2 MIR6077 FMO5 NBPF12 LOC105371226 PRKAB2 PDE4DIP NUDT4P2 GJA8 ACP6 LINC00624 RNU1-13P
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	CHD1L PDIA3P1 PRKAB2 FMO5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

nucleotide-excision repair, DNA duplex unwinding
DNA repair
nucleotide-excision repair, preincision complex stabilization
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 3'-to lesion
nucleotide-excision repair, DNA incision, 5'-to lesion
chromatin remodeling
cellular response to DNA damage stimulus
nucleotide-excision repair, DNA incision
global genome nucleotide-excision repair
biological_process
drug metabolic process
oxidation-reduction process

Function(s)

nucleotide binding
nucleic acid binding
ATP-dependent DNA helicase activity
protein binding
ATP binding
ATPase activity
N,N-dimethylaniline monooxygenase activity
flavin adenine dinucleotide binding
NADP binding